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A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16.

作者信息

Thomson S A, Rasmussen S A, Zhang J, Wallace M R

机构信息

Department of Pediatrics, Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville, USA.

出版信息

Hum Genet. 1999 Jul-Aug;105(1-2):171-3. doi: 10.1007/s004399900077.

DOI:10.1007/s004399900077
PMID:10480375
Abstract

Hereditary cylindromatosis (HC; MIM 132700) is an autosomal dominant condition characterized by benign skin appendage tumors most commonly on the scalp and face. Previously, the HC gene (CYLD1) was linked to chromosome 16q12-13, and tumors showed loss of heterozygosity (LOH), suggesting that CYLD1 is a tumor suppressor gene. Here we report a new multi-generation cylindromatosis family whose condition maps to that region, with 7/13 tumors showing LOH on 16q.

摘要

相似文献

1
A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16.
Hum Genet. 1999 Jul-Aug;105(1-2):171-3. doi: 10.1007/s004399900077.
2
The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas.
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3
Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13.
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Loss of heterozygosity at cylindromatosis gene locus, CYLD, in sporadic skin adnexal tumours.散发性皮肤附属器肿瘤中圆柱瘤病基因位点CYLD的杂合性缺失
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引用本文的文献

1
Epidermal CYLD inactivation sensitizes mice to the development of sebaceous and basaloid skin tumors.表皮CYLD失活使小鼠对皮脂腺和基底样皮肤肿瘤的发生敏感。
JCI Insight. 2016 Jul 21;1(11). doi: 10.1172/jci.insight.86548.
2
The role of the c-Jun N-terminal Kinase signaling pathway in skin cancer.c-Jun N-端激酶信号通路在皮肤癌中的作用。
Am J Cancer Res. 2012;2(6):691-8. Epub 2012 Nov 20.
3
CYLD inhibits tumorigenesis and metastasis by blocking JNK/AP1 signaling at multiple levels.CYLD 通过在多个层面阻断 JNK/AP1 信号通路来抑制肿瘤发生和转移。
Cancer Prev Res (Phila). 2011 Jun;4(6):851-9. doi: 10.1158/1940-6207.CAPR-10-0360. Epub 2011 Apr 8.
4
Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis.鉴定出 CYLD 中的一个大型重排是家族性圆柱瘤病的原因。
Fam Cancer. 2011 Mar;10(1):127-32. doi: 10.1007/s10689-010-9393-y.
5
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.布鲁克-施皮格勒综合征中圆柱瘤病基因(CYLD)突变的更新:去泛素化在细胞信号传导中作用的新见解
Hum Mutat. 2009 Jul;30(7):1025-36. doi: 10.1002/humu.21024.
6
A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man.一条新的小额外标记染色体,在一名健康男性中产生嵌合型纯16号染色体长臂11.1区至12.1区三体。
Mol Cytogenet. 2008 Apr 2;1:4. doi: 10.1186/1755-8166-1-4.
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Regulation of B cell homeostasis and activation by the tumor suppressor gene CYLD.肿瘤抑制基因CYLD对B细胞稳态和激活的调节。
J Exp Med. 2007 Oct 29;204(11):2615-27. doi: 10.1084/jem.20070318. Epub 2007 Oct 8.
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The tumor suppressor CYLD interacts with TRIP and regulates negatively nuclear factor kappaB activation by tumor necrosis factor.肿瘤抑制因子CYLD与TRIP相互作用,并负向调节肿瘤坏死因子介导的核因子κB激活。
J Exp Med. 2003 Dec 15;198(12):1959-64. doi: 10.1084/jem.20031187.